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目的评估应用人群中HLA-DRB1基因的SNPs数据结合ELB算法来推算氨基酸及氨基酸单倍型的准确度,探索一种在群体研究中简便快捷的获得HLA-DRB1氨基酸类型及氨基酸单倍型的分布情况的方法。方法 144例样本采用传统的组特异性引物多次测序法获得HLA-DRB1基因的第11、13、57、67、71、74位氨基酸类型及氨基酸单倍型的分布情况,并与单次测序获得的SNPs数据结合ELB算法推算法的结果进行比较。结果用人群中HLA-DRB1基因的SNPs数据结合ELB算法推算HLADRB1单个位点的氨基酸类型与多次测序法之间的吻合率为100%,推算HLA-DRB1基因3个位点氨基酸单倍型(11-71-74)的吻合率为96.5%,推算6个位点氨基酸单倍型(11-13-57-67-71-74)的吻合率为93.7%。结论应用人群中HLA-DRB1的SNPs结合ELB算法可获得HLA-DRB1的氨基酸类型及氨基酸单倍型,其准确率与包含的氨基酸位点数相关。该方法具有准确性高和简便、快速的优点。
OBJECTIVE: To assess the accuracy of amino acid and amino acid haplotypes in combination with SNP data of HLA-DRB1 genes in population and ELB algorithm to explore a simple and rapid method to obtain HLA-DRB1 amino acid type and amino acid haplotype distribution in population studies The way of the situation. Methods A total of 144 samples were used to obtain the 11th, 57th, 67th, 71st and 74th amino acids of HLA-DRB1 gene and the distribution of amino acid haplotypes by using traditional group-specific primer multiple sequencing. The obtained SNPs data are compared with the results of the ELB algorithm. Results Using the SNPs of HLA-DRB1 gene combined with ELB algorithm in human populations, the coincidence rate of amino acid type of single locus of HLADRB1 with multiple sequencing was 100%, and deduced the amino acid haplotype of HLA-DRB1 11-71-74) was 96.5%. The coincidence rate of amino acid haplotype (11-13-57-67-71-74) at 6 loci was 93.7%. Conclusion The amino acid types and amino acid haplotypes of HLA-DRB1 can be obtained by using SNPs of HLA-DRB1 combined with ELB algorithm in human population. The accuracy is related to the number of amino acid residues contained. The method has the advantages of high accuracy and simplicity and speed.